Association of a homozygous GCK missense mutation with mild diabetes

Background: Homozygous inactivating GCK mutations have been repeatedly reported to cause severe hyperglycemia, presenting as permanent neonatal diabetes mellitus (PNDM). Conversely, only two cases of GCK homozygous mutations causing mild hyperglycemia have been so far described. We here report a novel GCK mutation (c.1116G>C, p.E372D), in a family with one homozygous member showing mild hyperglycemia. Methods: GCK mutational screening was carried out by Sanger sequencing. Computational analyses to investigate pathogenicity and molecular dynamics (MD) were performed for GCK-E372D and for previously described homozygous mutations associated with mild (n = 2) or severe (n = 1) hyperglycemia, used as references. Results: Of four mildly hyperglycemic family-members, three were heterozygous and one, diagnosed in the adulthood, was homozygous for GCK-E372D. Two nondiabetic family members carried no mutations. Fasting glucose (p = 0.016) and HbA1c (p = 0.035) correlated with the number of mutated alleles (0–2). In-silico predicted pathogenicity was not correlated with the four mutations’ severity. At MD, GCK-E372D conferred protein structure flexibility intermediate between mild and severe GCK mutations. Conclusions: We present the third case of homozygous GCK mutations associated with mild hyperglycemia, rather than PNDM. Our in-silico analyses support previous evidences suggesting that protein stability plays a role in determining clinical severity of GCK mutations

A Raman study of diamond film growth on Co-cemented tungsten carbide

Phase purity and crystallinity of diamond films grown by hot filament chemical vapor deposition on ISO-grade K10 cemented carbide [94.2 weight percent (w/o) WC-5.8 w/o Co] were studied by Raman spectroscopy as a function of substrate temperature, gas phase composition, and substrate pretreatments. High-quality diamond films were grown using 0.5% CH4/H-2 in a rather narrow range of substrate temperatures (750 to 760 degrees C). In all the deposited coatings, the first-order Raman band of diamond is detected at 1337 cm. This fact indicates that a 2 GPa residual compressive stress is present in the diamond phase. The linewidth of the diamond Raman peak increases with deposition temperature. This effect has been ascribed to a higher density of defects in diamond crystallites. It has been observed that Co removal from the substrate surface by wet chemical etching before deposition is less effective than a careful selection of deposition parameters to reduce the codeposition of nondiamond carbon phases. This finding has been attributed to the fast diffusion of the binder from the bulk to the substrate surface, even for the etched substrates

GALNT2 as a novel modulator of adipogenesis and adipocyte insulin signaling

Background/objectives: A better understanding of adipose tissue biology is crucial to tackle insulin resistance and eventually coronary heart disease and diabetes, leading causes of morbidity and mortality worldwide. GALNT2, a GalNAc-transferase, positively modulates insulin signaling in human liver cells by down-regulating ENPP1, an insulin signaling inhibitor. GALNT2 expression is increased in adipose tissue of obese as compared to that of non-obese individuals. Whether this association is secondary to a GALNT2-insulin sensitizing effect exerted also in adipocytes is unknown. We then investigated in mouse 3T3-L1 adipocytes the GALNT2 effect on adipogenesis, insulin signaling and expression levels of both Enpp1 and 72 adipogenesis-related genes. Methods: Stable over-expressing GALNT2 and GFP preadipocytes (T 0 ) were generated. Adipogenesis was induced with (R+) or without (R−) rosiglitazone and investigated after 15 days (T 15 ). Lipid accumulation (by Oil Red-O staining) and intracellular triglycerides (by fluorimetric assay) were measured. Lipid droplets (LD) measures were analyzed at confocal microscope. Gene expression was assessed by RT-PCR and insulin-induced insulin receptor (IR), IRS1, JNK and AKT phosphorylation by Western blot. Results: Lipid accumulation, triglycerides and LD measures progressively increased from T 0 to T 15 R- and furthermore to T 15 R+. Such increases were significantly higher in GALNT2 than in GFP cells so that, as compared to T 15 R+GFP, T 15 R- GALNT2 cells showed similar (intracellular lipid and triglycerides accumulation) or even higher (LD measures, p < 0.01) values. In GALNT2 preadipocytes, insulin-induced IR, IRS1 and AKT activation was higher than that in GFP cells. GALNT2 effect was totally abolished during adipocyte maturation and completely reversed at late stage maturation. Such GALNT2 effect trajectory was paralleled by coordinated changes in the expression of Enpp1 and adipocyte-maturation key genes. Conclusions: GALNT2 is a novel modulator of adipogenesis and related cellular phenotypes, thus becoming a potential target for tackling the obesity epidemics and its devastating sequelae

Levantamento dos danos causados pela infestação de Spodoptera frugiperda (J.E. Smith) em lavouras comerciais de milho Bt na Região Central de Minas Gerais.

bitstream/CNPMS-2010/22541/1/Circ-134.pd

Characterization of biomass emissions and potential reduction insmall-scale pellet boiler

6noIn recent years it has been proved that residential biomass combustion has a direct influence on ambient air quality, especially in the case of cereals. The aim of this study is the characterization of the emissions in small-scale fixed-bed pellet boiler (heat output of 25 kW) of beech and corn, and of its potential reduction to an addition of calcium dihydroxide. In the biomass combustion test 7 fuel mixtures were investigated with regard to the particulate content (PM10), gaseous emissions and combustion chamber deposit. The corn kernels tanned with calcium dihydroxide determined a decrease in particulate emissions (54±13 mg MJ− 1) in comparison to corn, whereas in the combustion of corn pellet with 1% calcium dihydroxide high emissions were observed (193±21 mg MJ− 1). With regard to SO2 emissions, the combustion of corn with the additives make a reduction in comparison to additive-free corn.openopenDELL'ANTONIA D.;Pergher G;Cividino SRS;Gubiani R;Cecchini M;Marucci ADell'Antonia, D.; Pergher, G; Cividino, Srs; Gubiani, R; Cecchini, M; Marucci,

Avaliação da incidência de organismos alvo e não alvo em milho Bt (Cry 1Ab) em condições de campo em Sete Lagoas-MG.

bitstream/CNPMS-2010/22385/1/Circ-128.pd

Trichinella britovi etiological agent of sylvatic trichinellosis in the Republic of Guinea (West Africa) and a re-evaluation of geographical distribution for encapsulated species in Africa

In West Africa, Trichinella infection was documented in humans and animals from Senegal in the 1960s, and the biological characters of one isolate showed a lower infectivity to domestic pigs and rodents when compared with that of a Trichinella spiralis pig isolate from Europe. To identify the Trichinella species present in West Africa, a survey was conducted in a total of 160 wild animals in the Republic of Guinea. Three Viverridae, one true civet (Viverra civetta) and two African palm civets (Nandinia binotata) from the Fouta Djallon Massif, Pilimini Subprefecture, were found positive by artificial digestion of muscle samples. Trichinella larvae from these three viverrids were identified as Trichinella britovi and no difference was detected in three examined sequences from these African isolates and the reference strain of T. britovi from Europe, indicating common ancestry, an historically continuous geographic distribution, and recent isolation for African and European populations. The detection of T. britovi in West Africa modifies our knowledge about the distribution of encapsulated species of Trichinella in Africa. Thus, Trichinella nelsoni is now considered to have a distribution limited to the Eastern part of the Afrotropical region from Kenya to South Africa. This provides a plausible explanation for the presence of Trichinella T8 in Namibia and South Africa, and further suggests that T. britovi could be the Trichinella species circulating among wild animals of Northern Africa

Prevalence of the single-nucleotide polymorphism rs11554137 (IDH1105GGT) in brain tumors of a cohort of Italian patients

IDH mutational status is required for proper diagnosis according to the WHO criteria revised in 2016. The single nucleotide polymorphism (SNP) rs11554137 (IDH1105GGT) at codon 105 of IDH1 has been reported in patients with several tumor types, including those with glioma. The aim of this study is to investigate the prevalence of IDH1105GGTin a cohort of brain tumors, and its association with clinicopathologic features and IDH1 and IDH2 missense mutations. Exon 4 of IDH1 and IDH2 was analyzed in a series of brain tumors classified according to current WHO criteria. DNA from control individuals was analyzed to infer the prevalence of IDH1105GGTin the reference population. Analysis was performed using next generation sequencing. IDH1105GGTwas three times more frequent in patients with tumors (44/293 cases, 15.0%) vs. population controls (6/109, 5.5%) (p = 0.0102). IDH1105GGTwas more frequent in grade III tumors (26.1%) compared to grade II (10.9%, p = 0.038) and grade IV tumors (13.7%, p = 0.041). IDH1105GGTwas more frequent in grade II and III tumors without an IDH tumor missense mutation (43.8%) than in those with (11.5%, p = 0.005). The IDH1105GGTSNP likely represents an important genetic marker, worthy of additional investigation to better understand the clinical and biological features of IDH-WT infiltrating gliomas